Khatami Ramin, Luca Gianina, Baumann Christian R, Bassetti Claudio L, Bruni Oliviero, Canellas Francesca, Dauvilliers Yves, Del Rio-Villegas Rafael, Feketeova Eva, Ferri Raffaele, Geisler Peter, Högl Birgit, Jennum Poul, Kornum Birgitte R, Lecendreux Michel, Martins-da-Silva Antonio, Mathis Johannes, Mayer Geert, Paiva Teresa, Partinen Markku, Peraita-Adrados Rosa, Plazzi Guiseppe, Santamaria Joan, Sonka Karel, Riha Renata, Tafti Mehdi, Wierzbicka Aleksandra, Young Peter, Lammers Gert Jan, Overeem Sebastiaan
Center for Sleep Medicine, Sleep Research and Epileptology, Klinik Barmelweid AG, Barmelweid, Switzerland.
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
J Sleep Res. 2016 Jun;25(3):356-64. doi: 10.1111/jsr.12374. Epub 2016 Jan 26.
Narcolepsy with cataplexy is a rare disease with an estimated prevalence of 0.02% in European populations. Narcolepsy shares many features of rare disorders, in particular the lack of awareness of the disease with serious consequences for healthcare supply. Similar to other rare diseases, only a few European countries have registered narcolepsy cases in databases of the International Classification of Diseases or in registries of the European health authorities. A promising approach to identify disease-specific adverse health effects and needs in healthcare delivery in the field of rare diseases is to establish a distributed expert network. A first and important step is to create a database that allows collection, storage and dissemination of data on narcolepsy in a comprehensive and systematic way. Here, the first prospective web-based European narcolepsy database hosted by the European Narcolepsy Network is introduced. The database structure, standardization of data acquisition and quality control procedures are described, and an overview provided of the first 1079 patients from 18 European specialized centres. Due to its standardization this continuously increasing data pool is most promising to provide a better insight into many unsolved aspects of narcolepsy and related disorders, including clear phenotype characterization of subtypes of narcolepsy, more precise epidemiological data and knowledge on the natural history of narcolepsy, expectations about treatment effects, identification of post-marketing medication side-effects, and will contribute to improve clinical trial designs and provide facilities to further develop phase III trials.
发作性睡病伴猝倒症是一种罕见疾病，在欧洲人群中的估计患病率为0.02%。发作性睡病具有许多罕见疾病的特征，尤其是对疾病缺乏认知，这给医疗供应带来了严重后果。与其他罕见疾病类似，只有少数欧洲国家在国际疾病分类数据库或欧洲卫生当局的登记处记录了发作性睡病病例。在罕见病领域，识别特定疾病的不良健康影响和医疗服务需求的一个有前景的方法是建立一个分布式专家网络。第一步也是重要的一步是创建一个数据库，以便全面、系统地收集、存储和传播发作性睡病的数据。在此，介绍了由欧洲发作性睡病网络主办的首个基于网络的欧洲发作性睡病前瞻性数据库。描述了数据库结构、数据采集的标准化和质量控制程序，并概述了来自18个欧洲专业中心的首批1079名患者的情况。由于其标准化，这个不断增加的数据池最有希望让人更好地了解发作性睡病及相关疾病的许多未解决方面，包括发作性睡病亚型的清晰表型特征、更精确的流行病学数据以及发作性睡病自然史的知识、对治疗效果的预期、上市后药物副作用的识别，还将有助于改进临床试验设计，并为进一步开展III期试验提供便利。
